Mutagenetix > Incidental Mutations

Incidental Mutation 'R3773:Rngtt'

273413

Institutional Source

Beutler Lab

Gene Symbol

Rngtt

Ensembl Gene

ENSMUSG00000028274

Gene Name

RNA guanylyltransferase and 5'-phosphatase

Synonyms

mouse capping enzyme

MMRRC Submission

040749-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33310311-33502614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33330889 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 164 (I164T)

Ref Sequence

ENSEMBL: ENSMUSP00000103788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029942] [ENSMUST00000108153]

PDB Structure

CRYSTAL STRUCTURE OF THE RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE OXIDIZED RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME [X-RAY DIFFRACTION]
Crystal structure of mammalian capping enzyme (Mce1) and Pol II CTD complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029942
AA Change: I164T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: I164T

Domain	Start	End	E-Value	Type
Pfam:DSPc	46	179	4.7e-12	PFAM
low complexity region	195	205	N/A	INTRINSIC
Pfam:mRNA_cap_enzyme	272	460	1.8e-73	PFAM
Pfam:mRNA_cap_C	463	550	3.7e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108153
AA Change: I164T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: I164T

Domain	Start	End	E-Value	Type
Pfam:DSPc	47	179	2.2e-13	PFAM
low complexity region	195	205	N/A	INTRINSIC
Pfam:mRNA_cap_enzyme	272	460	2e-80	PFAM
Pfam:mRNA_cap_C	464	559	1.9e-22	PFAM
low complexity region	577	590	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155397

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	C	17: 56,876,262	M1T	probably null	Het
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
A2ml1	T	A	6: 128,555,083	K899N	probably benign	Het
Adgrv1	G	A	13: 81,499,043	S3126L	probably damaging	Het
Apba3	C	A	10: 81,272,609		probably null	Het
Apobec4	G	T	1: 152,756,805	A195S	probably benign	Het
Asap3	C	T	4: 136,227,575	T72I	probably benign	Het
BC067074	A	G	13: 113,318,209	E263G	probably benign	Het
Cand2	T	A	6: 115,785,217	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Chd1	A	G	17: 17,374,651	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,126,219	K19E	probably benign	Het
Cyp17a1	T	G	19: 46,669,723	K250T	probably damaging	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,256,775	D712G	probably damaging	Het
Dsg2	T	C	18: 20,591,862	W442R	probably damaging	Het
Elavl2	C	T	4: 91,264,088	G131R	probably damaging	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,841,450	D270G	probably damaging	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,590,622	E109D	probably damaging	Het
Fry	A	T	5: 150,398,198	R999S	probably damaging	Het
Gak	G	A	5: 108,582,672	T956I	probably benign	Het
Gm6614	T	C	6: 141,972,335	K605R	probably benign	Het
Gm9008	C	T	6: 76,496,959	V225I	probably benign	Het
Gps2	T	C	11: 69,916,101	F21L	probably damaging	Het
Grhl3	C	T	4: 135,555,847	W303*	probably null	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Matk	T	A	10: 81,258,297	L21Q	probably benign	Het
Mthfr	T	C	4: 148,044,450	V160A	probably benign	Het
Nhlrc4	T	A	17: 25,943,393	K127*	probably null	Het
Nsd1	G	A	13: 55,246,673	V696I	probably benign	Het
Nup210l	T	G	3: 90,119,894	Y194*	probably null	Het
Olfr1497	T	A	19: 13,795,204	M136L	probably benign	Het
Olfr345	A	T	2: 36,640,321	Y94F	probably benign	Het
Olfr57	G	A	10: 79,035,180	C128Y	possibly damaging	Het
Olfr90	G	T	17: 37,086,065	Y33*	probably null	Het
Pcdhb15	T	A	18: 37,475,890	V725D	probably benign	Het
Pes1	A	G	11: 3,975,548	Y221C	probably damaging	Het
Prkd3	T	C	17: 78,959,106	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,477,121	E97G	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rims1	T	C	1: 22,421,810	D842G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
Stxbp5	G	A	10: 9,768,927	T960I	probably damaging	Het
Suco	A	T	1: 161,843,996		probably null	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,694,880	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,898,586	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,091	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,889,615	*254W	probably null	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,424,095	V26A	probably damaging	Het
Upb1	T	A	10: 75,439,838		probably null	Het
Vmn1r32	T	A	6: 66,553,367	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,544,711	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,589,657	D235G	probably benign	Het
Wnk1	C	T	6: 120,002,280	R282Q	possibly damaging	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zbed4	T	C	15: 88,780,847	S373P	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp423	A	T	8: 87,780,512	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zfp61	T	C	7: 24,295,981	M1V	probably null	Het

Other mutations in Rngtt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01865:Rngtt	APN	4	33325157	splice site	probably benign
IGL01945:Rngtt	APN	4	33339073	missense	probably damaging	1.00
IGL02104:Rngtt	APN	4	33320517	critical splice acceptor site	probably null
IGL02505:Rngtt	APN	4	33337936	missense	possibly damaging	0.75
IGL02679:Rngtt	APN	4	33356098	missense	possibly damaging	0.65
IGL03309:Rngtt	APN	4	33339091	missense	probably damaging	1.00
R0013:Rngtt	UTSW	4	33379409	missense	probably benign	0.01
R0626:Rngtt	UTSW	4	33329598	splice site	probably null
R0633:Rngtt	UTSW	4	33368690	missense	probably damaging	1.00
R1645:Rngtt	UTSW	4	33362939	missense	probably damaging	1.00
R1670:Rngtt	UTSW	4	33368660	missense	probably benign
R1700:Rngtt	UTSW	4	33330864	missense	probably damaging	1.00
R1754:Rngtt	UTSW	4	33329634	splice site	probably null
R1809:Rngtt	UTSW	4	33443614	missense	probably benign	0.04
R1929:Rngtt	UTSW	4	33500302	nonsense	probably null
R2271:Rngtt	UTSW	4	33500302	nonsense	probably null
R2844:Rngtt	UTSW	4	33368678	missense	probably benign
R4445:Rngtt	UTSW	4	33499035	missense	probably benign
R4449:Rngtt	UTSW	4	33330865	missense	probably damaging	1.00
R4510:Rngtt	UTSW	4	33339032	missense	possibly damaging	0.88
R4511:Rngtt	UTSW	4	33339032	missense	possibly damaging	0.88
R4578:Rngtt	UTSW	4	33339050	missense	probably benign	0.30
R4610:Rngtt	UTSW	4	33339133	intron	probably benign
R4712:Rngtt	UTSW	4	33379394	missense	probably benign	0.00
R4888:Rngtt	UTSW	4	33500335	missense	unknown
R4911:Rngtt	UTSW	4	33500292	splice site	probably null
R5248:Rngtt	UTSW	4	33325110	nonsense	probably null
R6429:Rngtt	UTSW	4	33320606	nonsense	probably null
R6571:Rngtt	UTSW	4	33379413	missense	probably damaging	1.00
R7260:Rngtt	UTSW	4	33356176	missense	possibly damaging	0.52
R7298:Rngtt	UTSW	4	33362927	missense	probably damaging	1.00
R7379:Rngtt	UTSW	4	33498981	nonsense	probably null
R8163:Rngtt	UTSW	4	33325109	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTACCATGGGCATGTGTTTG -3'
(R):5'- CTTTTACTAAAGGATGCACTTGACC -3'

Sequencing Primer
(F):5'- ACCATGGGCATGTGTTTGTAGAATC -3'
(R):5'- AAGGATGCACTTGACCCTGGTTC -3'

Posted On

2015-03-25